Linked Life Data

7447259

Source:http://linkedlifedata.com/resource/pubmed/id/7447259

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
8-9
pubmed:dateCreated
1981-2-19
pubmed:abstractText
Cutaneous pigmentation, lingual leukoplasia and dystrophic changes of nails are present in the two cases. The other clinical manifestations are dental alterations, epiphora, loss of dermal ridges of the pulp with hyperhidrosis, atrophic skin of the dorsum of the hands. Dysphagia and bone marrow hypoplasia are present in one case. The proband (case 1) has normal values for the following: hemoglobin electrophoresis, pyruvate kinase, marrow and blood chromosome analysis. Biopsy of pigmented skin showed an atrophic epidermis with orthokeratotic-hyperkeratosis; in the higher dermis there were several melanophores. Multiple layers of vasal lamina are seen under electron microscopy. The parents and the two daughters are free of clinical or hematologic manifestations. The mother and her two affected sons have A1-BW 27 HLA haplotype. X-linked transmission is discussed.
pubmed:language
fre
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
0151-9638
pubmed:author
pubmed:issnType
Print
pubmed:volume
107
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
799-805
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:articleTitle
[Dyskeratosis congenita Zinsser-Cole-Engman form. Report of two affected brothers (author's transl)].
pubmed:publicationType
Journal Article, English Abstract, Case Reports